CF Diagnositic limbo anyone else?

[Beccamom]

Many of you may have noticed I have been posting on here for over a year. My 12 year old has been in CF diagnostic limbo since Christmas 2010. Does anyone have any ideas what else she should be tested for. She is negative for PCD, immunology is perfect, and no allergies at all. She does have Ehlers Danlos Syndrome type 3 which is a hypermobility disorder and according to the genetist she saw unrelated to her lung disease.
Although CF was tested at ages 1, 4, and 11 we still don't have a diffinitive answer. She has obstructive lung disease by PFT testing, failure to thrive, constant pneumonias and bronchitis, sinus surgery to remove nasal polyps, lungs colonized with bacteria and chronic chough for most of her life. She was hospitalized 3 times in 2011 alone. She has 1 CF gene, 2 polymorphisms, 7T/9T variants, negative sweat tests times 4. She had a positive NPD test and was diagnosed with CF, then a 2nd NPD test was 1% off of positive which put her back in CF limbo.
Her new pulmonologist (on the CF team at a CFF accredited children's hospital) is incredible and is treating her for CF.She takesantibiotics based on sputum cultures, mucus clearance vest, hypertonic saline in the nebulizer, and frequent antiobiotics. Her FEV1 increased from 55% to 100% with this treatment.
After 11 years of misdiagnosis my daughter is finally "healthier". I just fear that something may be missed because she is not diagnosed. Currently her energy is way down. She took a month of antibiotics andher energydefinitely improved, but is not back to normal. Her yellow sputum has gone back to white and decreased in quantity. We are planning to recheck her Cortisol since she is finally off all steriods for the first time in 11 years. Could she have CFRD?
If anyone is in limbo for a diagnosis and has any ideas please let me know. Maybe someone is in touch with a past forum participant that found out an accurate diagnosis and thus is no longer on this forum.
Jen

 

[Mistyjo]

We are right there with ya!! Can you request to check her blood sugar levels at home? Especially when she has symptoms. Jasey is having Glucose tolerance test on Friday. I don't know if it will show anything!

 

[kellysmithfa]

My little girl is only 6 but we have been through the same thing for years and doctors all over the country. We have a great one now and they just treat her for CF and it works. The doctors say she needs all CF medications and either way if it is CF or not CF her treatment wouldn't be any different. They said there are some genes that they don't even know how to look for them on test. The only thing they said they could try if we wanted was IVIG therapy. If CF it wont help but wont hurt. If not CF could help. We have decided not to try it for now. We have stopped testing on her for now. The only way if the future we may do more testing is if they come up with more drugs that are gene specific. Like we may need to find out the gene for sure like that new kylidco or whatever the name is?

 

[Printer]

Jen:

Having lived for 47 years before being dx, I feel your pain. There is no difference in the treatment (CF vs non CF) that she is getting now. The results of this treatment will not be instant, they will take time. As to CFRD, it is simple to test fot it. Discuss it with your new CF Doctor.

Bill

 

[Beccamom]

Thank you all for your support.
Mistyjo and kellysmithfa: Thank you for for reminding me we are not alone.

Printer: Thank you for the reassurance that her treatment would not change.

We have traveled to 4 different states searching for an answer. The new CF doctor treats her with CF treatment, but does not think she has CF. That is why it is really hard to request a CFRD test. I will call her pediatrician about that. He is also new for us this year and has done a great job as her Primary Care Manager which I know is rare.


It seems like we have not really missed anything other than the colon biopsy and that is quite invasive when she is getting the correct treatment and positive results. I learn so much from all of you on this forum, thanks for the advice.
Jen

 

[searchingforanswers]

I don't know if I can be of any help at all, but if there is one thing I understand its CF/diagnostic limbo. I was going to suggest PCD, but you've already tested that. Is your daughter a salt fiend? CF and certain endocrine disorders are the main causes of craving salt.

In my fifteen plus years of trying to figure this out I have seen a few anecdotal referances to lung problems being related to connective tissue disorders (specifically ehlers-danlos). Could she be a symptomatic CF carrier (there is some debate on symptomatic carriers but IMO it makes sense genetically) possibly exasurbated by the ehlers-danlos? I've had two seperate doctors suggest I might have ehlers danlos in the last year so you have me thinking. But like my entire life, actual testing...what's that <sigh>.

If your daughter is a salt fiend and instinctively shies away from foods that are higher in potassium then sodium...this could also be endocrine based. I'm not fond of the possibility of having a seperate resperatory and endocrine issue...CF would be a single explanation to put lifelong respiratory congestion/vulnerability, a bizarre digestive system (still looking into the possibility of a sulfite allergy/intolerance), anywaand my relationship with salt in one package... but there are some lesser known endocrine disorders that may fit both me and your daughter...or just one of us. Look into hypoalderstonism(trying to do this from memory) there is an article written by a doctor about his wife, that is interesting.

Good luck Becca's mom and if you do get an explanation...please let me know...I finally have insurance so as soon as its safe(waiting out pre-existing clause) I'm being tested for all possibilities once and for all. I'll try to dig out some of the research I did years ago for other disorders similar to CF but honestly the conclussion I reached is that the treatment for anything rarer then CF is largely based on CF resperatory treatment so it didn't matter that much... anyway its good that they are treating her as CF and that seems to be what she needs. Also discuss musinex with your doctors...I've found it very helpful for keeping the congestion more manageable.

SFA - age 36
Diagnostic Limbo since the age of 15

 

[Beccamom]

searchingforanswers: Thanks for your reply and I sent you a PM with a few questions.

 

[MerryMary]

I have never been diagnosed with CF. Since I was 5 I have had lung disease but they can't figure out what it is. Now the doctor says the closest thing to compare it to is CF and the treatment is the same. All the sweat tests (3 or 4) and all the other testsfor CFare always negative. I guess I have just learned to live with it. I hope you find answers for your daughter!

 

[sanfloraine]

I belong to the club of moms with a child in limbo. My son -25 months old- has been diagnosed as CRMS (1 CF gene and negative sweat test) and he is PI. The other CF problem. He also has minor asthma, on Flovent.

I am the one with bad lung problems, it may me wonder now if I could be a CF carrier with symptoms? I have been plagued with 'untypical asthma' since I was 18. Main symptom is shortness of breath that is debilitating at times when in presence of chemical smells, pollution or allergies to natural things such as mold and cat pee. I very rarely wheeze and Albuterol has never worked for me. I have had to go on steroid bursts several times. I also have sinus problems, always have 'yellow stuff' up there. Generally no cough though I have been heard coughing in my sleep. I have gone from doctor to doctor, they told me I have 'reaction airway disorder'... meaning they don't know why my lungs can be so reactive.

We have been told that our son may develop CFRD one day. My understanding is that it would happen if his pancreas stops working completely. But steroids can also lead to diabetes and your daughter has been taking them for years so she is at risks. You are right for pushing for a diabetes test.

Sorry, I am not much help! We are in the same boat, we have an appointment at the local CF clinic in July but don't hope much out of that, based on a prior appointment. We probably will want to fly to an other CF clinic for a 2nd opinion.

Quick question: we are planning on asking about the NPD test. How are your doctors explaining 2 very different results on this test?

One more thing: could your daughter benefit from adenoid surgery? My son just had his adenoids/tonsils removed because he had had too many ear infections. The ENT surgeon told us he very often does this surgery on CF kids as well.

 

[sanfloraine]

Real tired tonight, I meant 'it makes me wonder' and 'atypical asthma'.

As a parent: do you also have lung problems? My mom also has respiratory problems, like mine but less intense.

 

[Mistyjo]

Sanfloraine, my daughter is diagnosed cf related metabolic syndrome for now. We are also in diagnostic limbo! One cf disease causing gene, borderline sweats, positive for cf on colon biopsy, FTT, she couldn't finish NPD. We are now testing for cf related diabetes.

 

[sanfloraine]

Mistyjo: sounds like my boy! How old is your daughter? How long has she had the PI problems? Are the doctors monitoring her lungs as well... or ignoring them completely?

 

[Mistyjo]

She is 6yo. She sees the cf specialist every 3 months. She does throat swabs and PFTs at every visit so every 3months. She does not do CPT or breathing treatments. I'm trying to decide whether to ask him thru email or wait until her appointment in August about starting breathing treatments.

 

[sanfloraine]

Thanks Mistyjo, we really want him to also have throat swabs and PFTs on a regular basis - that is my number one priority right now. Maybe also some nebulized saline because I already have a nebulizer for me?

Which type of CF specialist are you able to see: GI or lung doctor? The CF lung doctor we saw last February was totally dismissive, we have an upcoming appointment with the CF GI doctor.

Is your daughter congested at times? How were her early years? My son has congestion here and there, asthma, allergies and he also had a sinus infection last August. And he had 15 ear infections or so in 18 months.